The Roadmap to Rare
This is the Roadmap to Rare. Hosted by OCNDS parent Eric Finn, this podcast explores the reality of the rare-disease journey—sharing hope through real stories, real challenges, and research. This is our rare disease roadmap.
Every rare disease journey is different, but no family should have to navigate it alone.
On Roadmap to Rare, Eric sits down with parents, advocates, clinicians, researchers, and leaders in the rare disease community to talk about what the path really looks like—from diagnosis to advocacy, research breakthroughs, and everything in between.
Together, these conversations shine a light on the experiences that unite the rare disease community: resilience, determination, and hope for the future.
The Roadmap to Rare
Episode 5: The Road to the CSNK2A1 Foundation ft. Jennifer Sills
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In Episode 5 of Roadmap to Rare, host Eric Finn is joined by Jennifer Sills, Founder and President of the CSNK2A1 Foundation, which supports families affected by Okur-Chung Neurodevelopmental Syndrome (OCNDS). Jennifer shares her family’s road to getting a diagnosis for her daughter and describes how a phone call with Dr. Wendy Chung led her to start the Foundation. Jennifer also discusses the importance of supporting the whole family, reaching families in many languages, and the ways that families can get involved with the CSNK2A1 Foundation.
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Links & Resources
Current OCNDS research opportunities, including Simon’s Searchlight and Citizen Health: https://www.csnk2a1foundation.org/family-research-opportunities
Hello everybody, and thank you for joining this episode of Roadmap to Rare, our podcast where we discuss the rare disease journey through real stories, real challenges, and research. On today's episode, we're joined by Jennifer Stills, president and founder of CSNK2A1 Foundation, which is dedicated to finding a cure for ochre chung neurodevelopmental syndrome or OCNDS and enhancing the lives of those affected. So welcome, Jennifer. If you don't mind introducing yourself.
SPEAKER_00Yeah, thank you so much for having me today. Thank you for the intro. I'm Jennifer Sills. I always say I live in near San Francisco, California. I have two children, a 17 and 15. And my 17-year-old Jules is the one that has ochra chungnual developmental syndrome.
unknownOkay.
SPEAKER_02Well, good. So that kind of dovetails us right back into it. If you want to walk us through the process of your daughter's OCNDS diagnosis, and then what was the journey like for you guys and your family?
SPEAKER_00Sure. You know, when Jules was born, she had things going on with her, things that were wrong. You know, she had a club foot, um, she had hip dysplasia, difficulty feeding. Um, she cried all the time. But they were things that seemed like, you know, manageable. They weren't life-threatening. Um, and everyone said that, you know, she would just outgrow it. And I remember even at six weeks, she didn't really um smile very much, or it was hard to get her to smile. But also she was like in a pelvic harness, you know, like I said, she had this positional foot deformity that had to come back. But really, um as time went on, it she wasn't reaching her milestones. And at one, it was almost as if um when she would look at me, she didn't know who I was. Um, and so we knew something was going on. And it's funny, I remember back, and I don't know if you have any of these moments where we have this video of her, and she's nine months old and she's babbling like crazy, and we're both saying to each other, My husband and I, oh, she's gonna be an early talker. And lo and behold, that jargon just became more complex, but really never became words until she was 11 or so.
SPEAKER_02Yeah, yeah, the the babbling are just trying to get our attention for different stuff. And yeah, like when you say she looked at you like you weren't there, was it kind of like almost through you or like a quizzical thing?
SPEAKER_00Yeah, it's almost like she didn't treat me any different. And sometimes, you know, normally kids like if they see their parent, they'll light up because they know like that's their person.
SPEAKER_01Sure.
SPEAKER_00And so yeah, she and uh it's funny because I I do I do oddly enough tear up because it wasn't until she was 11 or 12 um when I was asking my husband, you know, we were switching roles, um, he was putting her down to bed, and he said to me, Oh, um, Jules is asking for you. And I'm like, Come on, like she's never said mama or dad dad in her life. And I'm like, Come on, just do your job. Like, seriously, I I have some other things I need to get done.
SPEAKER_02It's your turn to like stop trying to get out of it, right?
SPEAKER_00And I'm like, no, he's like, No, really, Jen, she's saying mama, and so I went in there and she was calling me mama, and like at that moment, yeah, she knows that I'm her mama, and she knows like that I'm her person. Yeah, you know, and so it's funny though, because she's 17 now and she has not stopped saying mama. Like some of my favorite moments of the day are when she's saying, like, mama, Hawaii, mama, airplane, and she's yelling it from her bedroom, you know. Um, that's awesome. It it really never gets old because it's a milestone we never thought she would reach, right? Most kids we take it for granted. My son's 15 now. It's like he went through mama, mom, and now it's bruh, you know.
SPEAKER_02Bruh, everybody's a bruh.
SPEAKER_00So, yeah, so you know, with Jules, it's interesting because you're asking about just diagnosis, is that she wasn't diagnosed until she was seven. Oh, wow. Um, of having ochre chung. And and as I was saying, by the time she was one, we knew, you know, obviously something was different. She wasn't reading reaching her milestones, she had a low muscle tone, um, she had like still some difficulty feeding. Um, and um, so when we finally got a diagnosis, well, our first one was when she was two years old, and they said she had autism. And they said she had PDD NOS, which is pervasive developmental disorder not otherwise specified. And I'm like, are you kidding me? Like, not otherwise specified as a diagnosis.
SPEAKER_02We don't know what that's fun.
SPEAKER_00But the one thing that it unlocked for us was services, so we were happy to have the autism diagnosis. She still does have autism, but I always felt like it was autism plus plus plus. You know, we kept going back to the doctor, and over the years, finally, whole exome sequencing became available and readily available, and they did it and they said, only, you know, 10% of the time do we get a hit. And six weeks later, they called and um told us that they had there was just a paper that had come out identifying five other children in the world, and that Jules, to their knowledge, was the sixth person to be diagnosed with it.
SPEAKER_01Wow.
SPEAKER_00And so I said, Okay, well, what do we do now? And it was basically like, well, um, you could call the um kind of author on the paper and um let us know what you find out, and good luck.
SPEAKER_02Oh, jeez. Yeah, I kind of yeah, I get that.
SPEAKER_00Right. And it was so funny because I was like, Well, I was a literature major at Berkeley. Um, I'm an attorney. So I thought, well, how hard could this be? And I, you know, I sat down to read the paper, and this was my first lesson, like in rare disease 101, which is just because you have a diagnosis doesn't mean you have any answers. And then when, you know, I went back to the internet to search, you know, is there a group? What information is out there? And yeah, I I I couldn't believe it. There was nothing. And so I did take their advice and I called Dr. Wendy Chung, who at the time was at Columbia University. And when I spoke with her, we got through four questions. And at that time, she sort of broke it down and gave me the cold hard facts, which were no one was going to be studying this, and that families needed to shoulder the burden of pushing forward rare disease research. And, you know, at that time she gave me marching orders, start a foundation, find 16 families, make a mouse model, fund basic research, fundraise like crazy, you know, and written down everything you can for.
SPEAKER_02Yep, right? Okay.
SPEAKER_00And so I said to her, you know, I I can't do the research, but I can bring people together. And and, you know, I at the time too, I was thinking about how the doctor had said good luck. And I was thinking to myself, well, luck really isn't a very good strategy. Um, but it made me think of like my favorite thing, which is luck favors the prepared. And really, that's what we've been doing the past eight years is preparing for um when treatments come available, gene therapies that are amenable to ochre chung, that we will be able to take advantage of them right away.
unknownYeah.
SPEAKER_02I mean, also luck favors the bold, the people want to go out there and be a part of it. But if you're prepared and bold, you just open up everything for all the people.
SPEAKER_01Oh, that's lovely.
SPEAKER_02I feel like it's I feel even well, if I'm better prepared, I can talk to it better and I can really do whatever with it. But it's been awesome to have such a great group of people that's been built. Well, I mean, yes, their child children have OCNDS, but like how all the families are brought together, how the the environment of everybody it's really kind of a beautiful thing where how's your how's your child, but also how are you? How are you, you know, as a parent, how are you doing? And then at the same time, it's nice to hear, like, oh my gosh, we had the exact same thing with my kid, like, oh, okay, it's not just me.
unknownRight.
SPEAKER_02Not a lot of it. So I can only imagine being the sixth person, like, okay, there's at least a few that I can talk to, but then trying to do everything else that you've done so far is it's amazing to see. Um, which dovetails nicely into kind of our our um thesis for today. We're kind of talking more about the uh foundation that helps to move on um education, funding for research, um, keeping everything together. And so I know you you mentioned that Wendy said, yes, start a foundation, um, and you did, which is incredible. I couldn't even imagine starting something like that, but um so you started the CSNK2A1 foundation, which helped support Ochre Chung Neurodevelopmental Syndrome or OCNDS. Why why the why the tongue tie difference between the foundation and the the syndrome?
SPEAKER_00Oh, that's such a good question. You know, we we actually um get a lot of complaints about the name, first of all, the CSNK281 Foundation, because it's a mouthful. You've already gotten a syndrome name of ochre chung neural developmental syndrome, and you're like, wait, there's a hyphen, and where is that? Um, but when I first actually met with Wendy, she told me it was really common for um syndrome names to change over time, depending on um sort of what you discover about the syndrome and and things like that. So it's it's sometimes just sort of a placeholder. And with CSNK2A1, which is the gene that's affected that causes ochre chung, when we were thinking about when people first get the diagnosis, they get a genetic report generally, and the first thing that you see is the gene name. And then next to it, you'll see the mutation, and then it will say what it causes. And we thought for researchers to find us and for families to find us, that we should have a name that um that related, you know, to what they're seeing on their paperwork. But it is very hard for donors, it's very hard for families to say the name. We we recognize that for sure. And, you know, even though um obviously our jewels has this um syndrome, but we didn't want to name it something like Jules Rules Foundation because yeah, we decided from the beginning that this wasn't about her. This was more than just her. This was about everyone else that when they received a diagnosis, they deserved more than just a pat on the back and good luck. And they deserve more than just one paper describing the syndrome. They deserved to have, right? They deserve to have as much information, support, and to be able to be involved in the research process as much as possible.
SPEAKER_02Sure. And it's really nice too having many people kind of shoulder the brunt of everything. Like, I'm sure you're pretty much like what my wife would do, that deep dive into everything. I need to know what's going on. And like after a point, you're thinking to yourself, oh, this is it's is it's exhausting to do all of that. But if there's multiple people that can help, at least at the start of it, to understand and be able to find pieces and work together for it, it's got to help make it a little nicer and a little easier than just you shoulder on the bload. And at the same time, I'm sure and I I would feel kind of the same, like, oh, this was hard for me to find all the stuff. So if somebody else has, you know, OC and DS, then I already have the start. So here's what I've found, and then we can add together to help the next people join in.
SPEAKER_00I mean, when it's interesting, when we first started the foundation, I would say we had a seven-year plan. We were going to find one treatment, one cure, shut our doors, and be done. Um, very shortly afterwards, a friend of mine who also is in the rare disease space, who's actually developed a gene therapy, he told me, um, why do you think that? Parkinson's has 17 treatments and they're still going strong. Um, and I thought, oh my gosh, you know, I it's true actually that what I didn't know then, what I know now, is that we'll always be here at this point. And not because we won't find treatments and not that we won't find things that are curative, is that they won't always be readily available to everyone. There's no way we can get gene therapy to every single person around the world at this time right now, with the way that it's set up. And so there will always be families that need to come to a place to learn what are the possibilities, what are treatment options, what are sort of more curative options like gene therapy? What does school look like? What do we do as far as do we put them in a special school? Do we have a mainstream school? You know, those kinds of things. People are, and then also just the support in general, that there's also the people that choose potentially maybe not to have any of those things for a variety of reasons, whether it's personal, religious, and those kinds of things. But people will always need support. That this journey is not the one that anyone set out to have, and um, there's not a playbook or a roadmap. And so we'll always need support and a place to go and and for doctors and clinicians or providers to come to find out more about how they can better support those that have opra chung that are underneath their care. Yeah.
SPEAKER_02I was gonna say, even if there was something that worked like worked really well for one kid, I feel like so many of the people that I've met, ever you could talk to 20 people with OCNDS, and like you've got 20 different things, you know. Oh, they don't sleep well, or maybe they do sleep well, but they have this or they have that, and and all the different like so one cure is never, I don't feel like it's ever going to really take everybody, but yeah, one little those little pieces are really nice to be like, oh, we tried this.
SPEAKER_00I think when we first started, we were trying to, you know, one thing in the rare disease space and in the nonprofit space is that, you know, we're like little squirrels, and we're taking all of our, like I say, the dollars that we raise are like our little nuts, and we like squirrel them away and only put them away for research, right? Because that's what we want to spend all our money on. But as we've grown over the years, we realize, and and I invest also in a lot of early stage companies as well. And the thing is that you have to spend money in other places, capacity building, so you know, bringing on someone like Gabrielle Rushing, who is running our science program, um, some operational help like we have from Beth Chaffin, um, in order to grow and make our research even more robust. And and and that being said, so we now we have six kind of focus areas. We don't focus all on them equally, um, but even something like advocacy. When we look at, and you were there, you went to Washington, DC, where you were advocating at a federal level, letting people know that ochre chung is there. These are this is what our family lives look like. And when they have bills that come across their desks, whether maybe that's telehealth or um funding for rare disease research and things like that, that they know why that they should vote and put money towards those things.
SPEAKER_02I was gonna say there's faces or there's people behind it, like 100%.
SPEAKER_00It's so important to put a face to this. It's one of the reasons why, even on our website and we ask families if they feel comfortable to share their photo because we have a place where it says faces above C and DS, where families around the world who have never met someone with ochre chung can go and look, and it's actually shocking sometimes how much they look alike. They're all adorable kids, but they all have a little something that's the ochre chung line through them that you can see that it's so nice to know that you're not alone and to see other kids that that have it.
SPEAKER_02Yeah.
SPEAKER_00So I'm thinking like when you first started the whole thing, it was just you and your husband to get like the started up the foundation, or he um guilt he was working, and so I was able not to work, and so this whole time I I I don't know if I do the foundation a service or not, but at I don't draw a salary, but I work seven days a week, and I have really for the last 10 years since we got the diagnosis, it took us 18 months to launch because we didn't want to sort of rush things. So I met with 30 to 35 organizations, big to small, old to new, to find out, you know, what are some of the roadblocks? What should we um what what should our path be? You know, those kinds of things. And then also at the time we were building our board, um, and there weren't that many parents at the time, or parents that really wanted to join the board at the time or or um launch the foundation. And so we decided to take kind of a different pathway, um, which was we were gonna look at kind of eight different areas, so finance, accounting, um, advocacy work, you know, government work, um, uh attorney, uh, marketing uh specialty, things like that. And we were gonna fill those so we could really have like a brain council for everything that we would need to go to, um, plus individuals that would go into their Rolodex and help us fundraise. Um, and so that's actually just kind of out of necessity, how we ended up building our board. Um, and then at that time when we realized that we really wanted parents to be more part of the decision making, that we really wanted them to hear about all the research that we are looking at, the pathways that we were going, any products we might be releasing to our families for them to use. So, whether that was educational slides that we have to make it easier to talk to your providers, or something like Citizen Health, they would beta test it in the background for us. So we would make sure before we released it, it was a it was something that was worthwhile for parents to invest their time in and their energy in. Um, and you're part of the parent advisory board. And so in 2020, we launched the parent advisory board, our first one. We had an independent consultant that came in, so it wasn't me that was handpicking everyone. They went through an interview process. We did leadership training also, as well as part of that. And so we've done that with all the other cohorts. We haven't done it with this last cohort yet, but we're still into just a few months into our um into our term. But we really wanted to make sure that we were helping our parents um become better advocates, that they would be armed with information and really it's being able to talk about it comfortably, you know. So, because I think the better that we can all talk about it, the better advocates we can be for, you know, fighting for services, for explaining it to family members, to helping our child understand, to fundraising, to affecting change, like you were in Washington, DC.
SPEAKER_02Yeah. Yeah, and help us be a little more we feel better about it and we feel comfortable talking about it. But so talk a little bit more about like the dual, you you kind of run that dual role and navigating you're a parent of a child with OCNDS, but you're also the president of the CSNK2A1 foundation. Um, how do you how do you navigate those two?
SPEAKER_00Well, with little sleep um is the first thing, right? And now fueled by lots of coffee. Um, but I think um, you know, I I feel like I've been incredibly lucky um that from the beginning I was even traveling kind of all over Europe to meet families who had ochre chung to learn from them to help hopefully get them involved, just that this wouldn't be like US-centric and English-centric. And I've always been so humbled and blessed that people welcome me with open arms and welcome me into their home and tell me their life story. And I feel like that trying to, even though I've talked a lot today, I do try to listen a lot and listen about the struggles that they're having, what they need, what they want. Um, and from the beginning, um we have really strived to make sure that we have resources available in all languages. So any of our kind of more important documents, whether that's our one pager or sort of our only care guidelines that we have, which were written by Dr. Oker, we put them in um um more of an easy digestible way. Um, we've translated those into every single language that is spoken by the community that we know of right now, which is 32 uh languages. That's amazing. Um we also were kind of early adopters of having uh live caption translation on our family Zoom calls. Yeah. So that way anyone in any language can join and they can listen or they can read kind of in their native language, and then they can speak in their native language, and everyone around them can use the caption translation to understand. And I think um, yeah, I I think um what I've noticed about both lives is again just stopping and listening, or just stopping in the moment and taking a even when Jules is having a hard moment, let's say, which we've had many of, you know, during COVID was I have never really experienced anything like it where she was crying for nine hours a day. She was had her self injurious behavior was unruly, like she was bleeding through her clothes. Oh And it was devastating. Like I just thought it would never end.
SPEAKER_01Yeah.
SPEAKER_00Um, and really trying to figure out how to navigate that. And I think it was, you know, being patient, show patient, showing what's always seemed like this is such a weak concept to me, but I think it works, is which is self-compassion. I'm like, anytime anyone says that to me, uh, but I do believe it works that it is true. I think showing self-compassion with ourselves, um, and then again, those those that are around us. And I think it's certainly made me a better like parent or human because I I always say this. I think had this not have happened to us, I would have been a smug a-hole parent, just thinking that everyone was doing it wrong. It's like, oh, their kid doesn't sleep, they're just doing it wrong.
SPEAKER_02Yeah, they should do what I'm doing.
SPEAKER_00Right. Um, so it I I um yeah, and I and I think it's made me more aware of things like when I'm look when we're looking at the foundation at treatments versus kind of a cure versus care guidelines, or even now, which I'm really interested in, is using AI to transform daily care without looking at drug interventions and things like that. Like how can we make a difference in our families' lives today, because they are incredibly challenging. And there are things that we part uh companies we partner with, one even being citizen health, that has now um, you know, an AI component, which I think makes our lives easier. Um, and so those in the US, if they haven't tried it yet, I highly recommend trying Ari. It's like having someone in the trenches with you, um, it's really incredible. We're going through the conservatorship process right now with Jules because she's 17 and that's what's appropriate for her in California. I understand that other places in the country they have different mechanisms, and and something else might be more appropriate for another family. Sure. Um, but using Ari, putting what I had in my Mijo, which I really love. It's another product that we have available to our community if they'd like to use it. Um, and then also um citizen health, putting those together and putting it into Ari in Citizen, it helped me answer all the questions that I needed to answer for the conservatorship and made it go so much faster. Because I can imagine, as you know, Eric, and I'm sure Miranda, your wife knows, it's like filling out all those forms which you filled out like hundreds of times. And so it made it so quick. And then I printed out my Mijo and the profile on Jules, and then I filled out all the questions using Ari and the information I plugged into it. And when we gave it to the attorney, I said to my husband, watch this. She's gonna say she's never seen someone so prepared before. And basically, we be, you know, did her job for her that she like she couldn't believe it. We had already answered all her questions. And honestly, it has nothing to do with me. It has to do with the fact that there's this technology out there that can really make our lives a lot easier. Um, whether it's emailing doctors about new trends that you're seeing. So in Jules, it could be um maybe we've um seen two seizures and we haven't seen them in a really long time, or or things like that. So uh it can connect like with citizen health, it's amazing. And Ari, it can connect directly to your portal and draft the email and send it on your behalf when you ask it to send it.
SPEAKER_02So is Ari something that we can like a regular person could just go on and do, or do they have to be linked with something?
SPEAKER_00Um, yeah, you um you being signed up with citizen health and then you sign up for an Ari account. Okay. Um, and um if it I mean if anyone's interested that's listening, reach out, we'll make sure that you get connected. But those are the things that we're interested, not only are we doing kind of everything else, right? Research-wise, we have seven drugs that we're testing right now that are already updated approved to hopefully treat some of the symptoms of OCNDS. We are doing the gene therapy feasibility studies right now and going that route. You know, we're we're trying to make sure that we're getting care guidelines for families because right now care varies so wildly. You know, some people might have speech therapy once every six months, other people every two weeks, other people three times a week. And so we need to have more of a standard. Every family that I talk to, I learn about like all the different um, you know, the different um types of care that they're getting. And again, just the variation on how frequently it is. And so we're working on that. And then again, too, we're also working on um just how we can make our lives easier on the day-to-day because it's it is a lot.
SPEAKER_02As I said, that's almost predictable, you know, like it tells you, oh, yeah, you should probably do this. Oh, yeah, I didn't think about it. That's awesome though. Um, so looking at what you've built so far, um, is there a piece of advice you got along the way that would change the way that you approach the foundation's work?
SPEAKER_00You know, I think what I realized getting into this space was that there's a lot of noise. And what I mean by that is I think you could relate is that when you have your baby, people will tell you, yes, you clean the belly button after they're born with alcohol. Someone else will say, No, you don't do that, right? And so there people have lots of advice and lots of conflicting advice. And really, you have to take stock in this instance of our community, of what their tolerance is, what they want in their life, what they need, and um then figure out our own path. Um, and we, you know, we say a lot, you know, Joha or Gabrielle now say a lot too, like, I did my due diligence. And it's like, yes, we do a lot of due diligence, right? We talk to a lot of people, we do a lot of research, and then we make informed decisions. And I think what can happen a lot is we're also so eager to help our kids and want to make a difference that sometimes I see that people just try something or sign up for something without knowing how that will affect their community, how what a burden it will be on their community. So it's really what's the best thing for our Oprah Chung family.
SPEAKER_02Yeah. I think it's nice too. I know when when new things come up and we hear about them on the parental advisory board and around, like, oh, hey, we've got this new one we want you as parents to just try it. Just we signed up for it. It was free for us to do, or you know, it was something that we think what what you it's already gone through the vetting process when we hear about it as a parental advisory board from I'm sure you and there's Gabrielle and some others that have at least read about it, talked to people, and then what's nice is you as a parent can like in your head, like, okay, so like with rare diseases, I know we uh uh the term that I I heard from I forget who even said it, but it was one that like light bulb moment, like there's always those those milestones. Well, miles a long way, no matter what you look at it. And so if you're looking at the mile of a person that they're they're going through their their marathon of their life, like that's a long distance. But someone did mention like inch stones, those little bits, like um you had mentioned um by your daughter saying mama. Um our son, it took a while for him for mama, and you finally get mama and daddy, the daddy when I come home is one of my favorites. Just the what does progress look like for OCNDS research? Um, and what does a win look like for for you guys and the foundation side?
SPEAKER_00You know, unfortunately, I wish that they were milestones um for OCNDS research or just rare disease research in general. I think what a great way to put it, Eric, that it's really um OCNDS research in stones. You know, it we we have great ideas, amazing researchers. It's just amazing how long things take. I think what's great is that we do have a plan, um, and we are working and we're working towards that plan. And everything that we do, we we try to say or think, you know, is this part of our roadmap? Yes, there's so many things. You could study OC and DS in a million different ways, but is it really going to reach the goal of the goal is treatment, the goal is something curative, um, or the goal is more standard of care, so better standard of care. And so if it doesn't really fit into there, then we're not going to fund it at this point. Like, because at this point, we are the number one funder of OCNDS research in the world. And hopefully one day that won't be the case. But as of right now, since we have very limited funds, we have to be uh really strategic. But things just do, they take a long time, you know, even our mouth mice models to for them to have babies and to breed them and and then to characterize them to see sort of what um symptoms are showing up in the mice when they have OCNDS. All this stuff just takes time, too much time. Too much time.
SPEAKER_02Let's get this now.
SPEAKER_00Right? But we are on a good we are on a good pathway.
SPEAKER_02Yeah. Um, so if there are OCNDS families that are listening to the episode and want to get connected to the foundation, um, can you tell us the uh what the families can do to get involved?
SPEAKER_00Yeah, first, if they have just been diagnosed and they haven't reached out, please register with the foundation. There's a place to register. We are the number one kind of register of families around the world because we can take families in any language, languages. We have over 400 families registered with us now. Um, so please reach out so we can get you connected and for you to join our closed Facebook group, which is a really nice place to ask the whole community about um symptoms you might be seeing or difficulties you're having to really, because really this is trial and error still, and getting input from others of what's work can be really helpful. And then also knowing that you're not alone can be really helpful.
SPEAKER_01Yeah.
SPEAKER_00And I think too that there's other opportunities as far as participating in research. We we can't do this without families' participation, you know, and the more that we know the better. And so, of course, we always say please participate in Simon Searchlight, which is our long-term natural history study, which just shows the trajectory of the syndrome over time. So we know what it looks like when someone gets to 20 and how we need to support them. Um, also citizen health. Citizen health is incredible because they gather your medical records, which um I found out in California. I don't know where is where you live, Eric, is that actually I don't own my medical our daughter's medical records or my own. And so it was really nice to actually have access to them.
SPEAKER_01Yeah.
SPEAKER_00Um, and they have AI tools that can call them for information that you can see how many medicines have you had tried over time? What worked, what didn't work, how long were you on them? How long did they have this symptom for? Um, and then the amazing other things, helping with IEPs, explaining to insurance that they've denied speech therapy, but your child, you know, only has 60 words and things like that. So helping you formulate, they can help you prepare for IEPs. And so I I highly recommend um that individuals sign up for it. The way that it helps the foundation is is that we get um high-level de-identified information back about the community as a whole. What symptoms are showing up that haven't been reported before, how are people like what drugs are they using, how are they managing things, things like that. So it and it will be very helpful as we are going to test drugs in our patient population, we call a clinical trial, um, to see you need to have things like endpoints, which means it shows over time what we expect for this drug to do. So, for example, if you started with six words and we expected at the end of the trial for you to have 10 words, that that would be an endpoint. But to in order to get those points and that data, we need to know where everyone's starting at. And then always on our website, we have we have definitely other opportunities for people to participate. We have a speech uh um uh study going on right now because speech has really never been studied, even though it's one of the hallmark symptoms of OCNDS. Um, and so we have the speech study that's going on that individuals can enroll in. Um, and soon we're gonna be doing a motor study because motor actually hasn't really been um characterized very well. And so a lot of our population crawled late, walked late. This will be a really important study also for kind of one that people are aware that these are issues. So if someone is fighting for occupational therapy or physical therapy for their child, they'll be able to point to yes, look, you know, there's a whole body of work showing that this occurs in our population. Yeah.
SPEAKER_02Yeah. Well, um, thank you. And as we're kind of wrapping up, um, for those maybe the people that maybe just discovering the podcast, the foundation, um, what's a message you would like you would want them to take away from this episode?
SPEAKER_00You don't have to do this alone. We we are here. There is you know, no one wants to be a part of this tribe, and I wouldn't wish it upon anyone, but your your tribe is here, and um don't be afraid to reach out. I know sometimes people are could be afraid because maybe their child's symptoms are more um mild or or maybe sometimes they're more severe, and so they feel like there won't be someone to understand, but this syndrome is a spectrum and there is a match for everyone. It's and so I just I encourage you to be brave and to be bold just to reach out.
SPEAKER_02Sure. I was gonna say the one biggest thing I know of more towards my wife's side of it is like you no one's gonna advocate for you for the most part, that you go out, like tell your story, advocate, and just lay it out. This is this is us, this is our child, and just be honest as things come up. And and one of the things I always loved is like we don't know, we don't know. You know, as parents, I mean no one says, like, oh hey, here's your here's your manual. Here you go, that's what we know. It's like, well, this is what my parents did.
SPEAKER_00The last thing I would just say is that every small act adds up, and I think Dr. Rushing talks about this a lot. She even got a bee tattoo because obviously it's you know, a bee that goes from one flower to another that pollinates an entire field. And so I just don't underestimate what one action can do, um, one participation in research and things like that, because they in the end they really do add up and and make a difference.
SPEAKER_02Yeah. Absolutely. Well, thank you so much, uh Jennifer, for coming on. Um if you guys are listening right now, make sure to like, comment, subscribe, and listen wherever you listen to podcasts. And uh links to everything that we mentioned in the shows are going to be in the show notes. Um, anything, any last word or anything for you, Jennifer, before we get going?
SPEAKER_00No, just thank you so much for having me on today and for also taking the leap of faith and starting this podcast. That's really exciting, and um yeah, and anyone that I haven't met before, I um I do look forward to meeting you.
SPEAKER_02Yeah, awesome. Well, thank you so much, Jennifer.
